F62L (p.Phe62Leu) variant of REEP1 (Q9H902)
F62L (p.Phe62Leu) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- TOPMed rs1337560146
- gnomAD rs1337560146
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.18
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available